Patient with mass effective brain tumor that undergo non-invasive intracranial pressure measurement

Tumor, Brain

Intracranial Pressure Increase

Non-invasive measurement of intracranial pressure in patients with mass effective brain Tumors

Non-invasive measurement of intracranial pressure

Kantonsspital Aarau

non_invasive_aICP_Tumor

Non-Invasive Measurement of Absolute Intracranial Pressure in Patients With Mass Effective Brain Tumors

The primary outcome is the non-invasive, absolute intracranial pressure (aICP) before brain tumor surgery, as determined by the "NON-INVASIVE ICP ABSOLUTE VALUE METER" in mmHG.

The secondary outcome is to demonstrate correlation between increased aICP and clinical and radiological signs.

Javier Fandino, MD

Patients with Hypophosphatasia disease or high-grade suspicion for Hypophosphatasia disease

For the development of the new biomarkers using the technique of Mass-spectrometry 7, 5 ml EDTA blood and a dry blood spot filter card are taken. To proof the correct di- agnosis of Hypophosphatasia in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Hypophosphatasia disease will be done. The analyses will be done at the: Centogene AG Am Strande 7 18055 Rostock Germany

Defective Mineralization

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Lady Ridgeway Hospital for Children

Biomarker for Hypophosphatasia Disease (BioHypophos)

Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Next-Generation Sequencing (NGS) of the ALPL gene will be performed. The mutation will be confirmed by Sanger sequencing.

The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

Centogene AG Rostock

Cerebral Venous Thrombosis

assess the overall accuracy of D-dimer values and FXIII activation peptide (FXIII-AP), using a newly developed ELISA test

ELISA Test

Department of Neurology, Academic Medical Centre, University of Amsterdam

Dep. of Neurology, Bern University Hospital

The Role of Factor XIII Activation Peptide and D-dimer Values for the Diagnosis of Cerebral Venous Thrombosis (CVT)

The Role of Factor XIII Activation Peptide and D-dimer Values for the Diagnosis of Cerebral Venous Thrombosis

Departement of Neurology

University Hospital Inselspital, Berne

Schweizerische Herzstiftung

Healthy control children will be enrolled from out-patient well-baby visits.

Febrile children admitted to the hospital with Plasmodium falciparum parasitemia, no other cause of fever identified, no evidence of severe malaria (as listed in Study Protocol, Section 5.2 under exclusion criteria for UM), and no co-infection with other malaria species will be enrolled in the UM group.

Comatose children admitted to the hospitals will be evaluated by the house physician and/or member of the study team. If lumbar puncture is obtained, the parent or guardian will be approached for permission to enroll the child into the study. Parasitemic children with no other cause of coma identified will included in the CM group.

Children without parasitemia and diagnosed with a non-malaria cause of coma or CNS disease will be enrolled in the non-malaria CNS disease group.

papilledema/seizures

non_invasive_aICP_Tumor

Biomarker for Hypophosphatasia Disease (BioHypophos)

The Role of Factor XIII Activation Peptide and D-dimer Values for the Diagnosis of Cerebral Venous Thrombosis (CVT)

Hyperphenylalaninemia in Cerebral Malaria

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